Incidental Mutation 'R3922:Slc27a3'
| ID |
306973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc27a3
|
| Ensembl Gene |
ENSMUSG00000027932 |
| Gene Name |
solute carrier family 27 (fatty acid transporter), member 3 |
| Synonyms |
fatty acid transport protein 3, Acsvl3, FATP3 |
| MMRRC Submission |
040819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3922 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90292546-90297245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90294392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 460
(H460N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029541]
[ENSMUST00000029542]
[ENSMUST00000071488]
[ENSMUST00000196530]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029541
AA Change: H460N
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: H460N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
138 |
535 |
9.2e-62 |
PFAM |
|
Pfam:AMP-binding_C
|
543 |
619 |
9.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029542
|
| SMART Domains |
Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
269 |
493 |
6e-110 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071488
|
| SMART Domains |
Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
269 |
493 |
6e-110 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127064
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132041
AA Change: H425N
|
| SMART Domains |
Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: H425N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
147 |
501 |
5.3e-50 |
PFAM |
|
Pfam:AMP-binding_C
|
509 |
585 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196530
|
| SMART Domains |
Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
|
Pfam:DUF2356
|
268 |
497 |
5.7e-114 |
PFAM |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1018 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
| Esd |
A |
T |
14: 74,980,667 (GRCm39) |
Q130H |
probably benign |
Het |
| Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
| Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
| Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,999,622 (GRCm39) |
L155P |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
| Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
| Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc27a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Slc27a3
|
APN |
3 |
90,292,748 (GRCm39) |
nonsense |
probably null |
|
|
IGL01080:Slc27a3
|
APN |
3 |
90,292,767 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01313:Slc27a3
|
APN |
3 |
90,293,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Slc27a3
|
APN |
3 |
90,293,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02261:Slc27a3
|
APN |
3 |
90,295,002 (GRCm39) |
missense |
probably benign |
|
|
R0557:Slc27a3
|
UTSW |
3 |
90,294,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Slc27a3
|
UTSW |
3 |
90,293,624 (GRCm39) |
missense |
probably benign |
|
|
R2032:Slc27a3
|
UTSW |
3 |
90,294,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4278:Slc27a3
|
UTSW |
3 |
90,296,495 (GRCm39) |
unclassified |
probably benign |
|
|
R4432:Slc27a3
|
UTSW |
3 |
90,294,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Slc27a3
|
UTSW |
3 |
90,294,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4672:Slc27a3
|
UTSW |
3 |
90,294,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5183:Slc27a3
|
UTSW |
3 |
90,296,477 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5201:Slc27a3
|
UTSW |
3 |
90,296,526 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5328:Slc27a3
|
UTSW |
3 |
90,294,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Slc27a3
|
UTSW |
3 |
90,294,382 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5477:Slc27a3
|
UTSW |
3 |
90,294,146 (GRCm39) |
missense |
probably benign |
|
|
R5743:Slc27a3
|
UTSW |
3 |
90,294,379 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6344:Slc27a3
|
UTSW |
3 |
90,294,961 (GRCm39) |
nonsense |
probably null |
|
|
R6450:Slc27a3
|
UTSW |
3 |
90,292,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6988:Slc27a3
|
UTSW |
3 |
90,293,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7204:Slc27a3
|
UTSW |
3 |
90,297,033 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7736:Slc27a3
|
UTSW |
3 |
90,296,740 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8045:Slc27a3
|
UTSW |
3 |
90,294,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8046:Slc27a3
|
UTSW |
3 |
90,296,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Slc27a3
|
UTSW |
3 |
90,295,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Slc27a3
|
UTSW |
3 |
90,293,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Slc27a3
|
UTSW |
3 |
90,296,591 (GRCm39) |
missense |
|
|
|
R9795:Slc27a3
|
UTSW |
3 |
90,296,875 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAGCAGCTTGTCCTTGG -3'
(R):5'- CCTGGCTTTACAAGGTGAGAGAC -3'
Sequencing Primer
(F):5'- AGCTTGTCCTTGGCCAGC -3'
(R):5'- CTTTACAAGGTGAGAGACAGAGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation